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一个管家型启动子位于杜兴氏肌营养不良基因的3'区域,它控制着该基因的主要产物Dp71的表达。

A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene.

作者信息

Lederfein D, Yaffe D, Nudel U

机构信息

Department of Cell Biology, Weizmann Institute of Science, Rehovot, Israel.

出版信息

Hum Mol Genet. 1993 Nov;2(11):1883-8. doi: 10.1093/hmg/2.11.1883.

Abstract

The 70.8 kDa protein product of the distal part of the giant Duchenne muscular dystrophy (DMD) gene, Dp71, is expressed in many cell types and tissues. Anchored PCR, primer extension and functional analysis of transfected constructs were used to determine the 5' end of the mRNA and characterize the promoter of this major DMD gene product. The 5' untranslated region (5'UTR) of Dp71 is transcribed from a single exon; the promoter does not contain a TATA box, and has a very high GC content and several potential Sp1 binding sites. It is located more than 2000 kb 3' to the muscle and brain type dystrophin promoters and only 150 kb from the 3' end of the gene, suggesting that in most DMD patients the expression of Dp71 is unaffected.

摘要

杜兴氏肌营养不良症(DMD)基因远端的70.8 kDa蛋白质产物Dp71,在多种细胞类型和组织中表达。采用锚定PCR、引物延伸和转染构建体的功能分析来确定mRNA的5'端,并对该主要DMD基因产物的启动子进行表征。Dp71的5'非翻译区(5'UTR)由单个外显子转录;启动子不含TATA框,GC含量非常高,并有几个潜在的Sp1结合位点。它位于肌肉和脑型肌营养不良蛋白启动子下游超过2000 kb处,距离基因的3'端仅150 kb,这表明在大多数DMD患者中,Dp71的表达不受影响。

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